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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Suppan, C; Graf, R; Jahn, S; Zhou, Q; Klocker, EV; Bartsch, R; Terbuch, A; Kashofer, K; Regitnig, P; Lindenmann, J; Posch, F; Gerritsmann, H; Jost, PJ; Heitzer, E; Dandachi, N; Balic, M.
Sensitive and robust liquid biopsy-based detection of PIK3CA mutations in hormone-receptor-positive metastatic breast cancer patients.
Br J Cancer. 2022; 126(3):456-463 Doi: 10.1038/s41416-021-01601-9 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Balic Marija
Dandachi Nadia
Suppan Christoph
Co-Autor*innen der Med Uni Graz
Graf Ricarda
Heitzer Ellen
Jahn Stephan
Jost Philipp
Kashofer Karl
Klocker Eva Valentina
Lindenmann Jörg
Posch Florian
Regitnig Peter
Terbuch Angelika
Zhou Qing

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BACKGROUND: The benefit of alpelisib in hormone-receptor-positive (HR+) metastatic breast cancer patients provided clinical evidence for the increasing importance of PIK3CA testing. We performed a comparison of liquid biopsy and tissue-based detection of PIK3CA mutations. MATERIALS AND METHODS: PIK3CA hotspot mutation analysis using a high-resolution SiMSen-Seq assay was performed in plasma from 93/99 eligible patients with HR+/HER2- breast cancer. Additionally, mFAST-SeqS was used to estimate the tumour fractions in plasma samples. In 72/93 patients, matched tissue was available and analysed using a customised Ion Torrent panel. RESULTS: PIK3CA mutations were detected in 48.6% of tissue samples and 47.3% of plasma samples, with identical PIK3CA mutation detected in 24/72 (33.3%) patients both in tissue and plasma. In 10 (13.9%) patients, mutations were only found in plasma, and in 6 (8.3%) patients, PIK3CA mutations found in tissue were not detectable in ctDNA. In 49/93 plasma samples without detectable PIK3CA mutations, 22 (44.9%) samples had elevated tumour fractions, implying true negative results. CONCLUSION: SiMSen-Seq-based detection of PIK3CA mutations in plasma shows advantageous concordance with the tissue analyses. A combination with an untargeted approach for detecting ctDNA fractions may confirm a negative PIK3CA result and enhance the performance of the SiMSen-Seq test.
Find related publications in this database (using NLM MeSH Indexing)
Breast Neoplasms - drug therapy, genetics, metabolism, pathology
Circulating Tumor DNA - blood, genetics
Class I Phosphatidylinositol 3-Kinases - genetics
Estrogen Receptor alpha - metabolism
Female - administration & dosage
High-Throughput Nucleotide Sequencing - methods
Humans - administration & dosage
Liquid Biopsy - methods
Mutation - administration & dosage
Neoplasm Metastasis - administration & dosage
Receptors, Progesterone - metabolism
Thiazoles - therapeutic use

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